[3] It is a genetic developmental disorder[4] with clinical diversity characterized by hypoparathyroidism, sensorineural deafness and renal disease.
[citation needed] Other reported features include: intellectual disability, polycystic ovaries, particular distinct facial characteristics, ischaemic stroke and retinitis pigmentosa.
[8] Since the spectrum of phenotypic variation in affected people is quite large, Barakat syndrome probably arises as a low penetrance haploinsufficient disorder in which their genetic background plays a major role in the severity of the disease.
[9][2] A thorough diagnosis should be performed on every affected individual, and siblings should be studied for deafness, parathyroid and renal disease.
[citation needed] Management consists of treating the clinical abnormalities at the time of presentation and includes genetic counselling, correcting calcium, treating hearing problems, monitoring kidney function and close monitoring of cysts of the kidney.